A new locus for autosomal dominant Stargardt-like disease maps to chromosome 4

American Journal of Human Genetics

Volumn 64, Issue 5, 1999, Pages 1394-1399

  Kniazeva, Marina ^b   Chiang, Michael F ^c   Morgan, Basil ^c   Anduze, Alfred L ^a   Zack, Donald J ^c   Han, Min ^c   Zhang, Kang ^c  

^a Island Medical Center   (Virgin Islands (U.S.))

^b UNIVERSITY OF COLORADO   (United States)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CHROMOSOME 4; CHROMOSOME MAP; CLINICAL ARTICLE; FLUORESCENCE ANGIOGRAPHY; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STARGARDT DISEASE;

EID: 0033365301     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302377     Document Type: Article

References (35)

1. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, et al (1997a) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277:1805-1807
2. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, et al (1997b) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15:236-246
3. Bressler NM, Bressler SB, Fine SL (1988) Age-related macular degeneration. Surv Ophthalmol 32:375-413
4. Cibis GW, Morey M, Harris DJ (1980) Dominantly inherited macular dystrophy with flecks (Stargardt). Arch Ophthalmol 98:1785-1789
5. Deloukas P, Schuler GD, Gyapay G, Beasley EM, Soderlund C, Rodriguez-Tome P, Hui L, et al (1998) A physical map of 30,000 human genes. Science 282:744-746
6. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
7. Dryja TP, Briggs CE, Berson EL Rosenfeld PJ, Abitbol M (1998) ABCR gene and age-related macular degeneration. Science 279:1107 (http://www.sciencemag.org/cgi/content/full/279/5354/1107a)
8. Evans K, Fryer A, Inglehearn C, Duvall-Young J, Whittaker JL, Gregory CY, Butler R, et al (1994) Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nat Genet 6:210-213
9. Fish G, Grey R, Sehmi KS, Bird AC (1981) The dark choroid in posterior retinal dystrophies. Br J Ophthalmol 65: 359-363
10. Fishman GA (1976) Fundus flavimaculatus: a clinical classification. Arch Ophthalmol 94:2061-2067
11. Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, et al (1997) Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 91:543-553
12. Hadden OB, Gass JDM (1976) Fundus flavimaculatus and Stargardt's disease. Am J Ophthalmol 82:527-539
13. Hamajima N, Matsuda K, Sakata S, Tamaki N, Sasaki M, Nonaka M (1996) A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution. Gene 180:157-163
14. Heiba IM, Elston RC, Klein BEK, Klein R (1994) Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Study. Genet Epidemiol 11:51-67
15. Kaplan J, Gerber S, Larget-Piet D, Rozet JM, Dollfus H, Dufier JL, Odent S, et al (1993) A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet 5:308-311
16. Kelsell RE, Evans K, Gregory CY, Moore AT, Bird AC, Hunt DM (1997) Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. Hum Mol Genet 6:597-600
17. Klaver CCW, Assink JJM, Bergen AAB, van Duijin CM (1998) ABCR and age-related macular degeneration. Science 279:1107 (http://www.sciencemag.org/cgi/content/full/279/5354/1107a)
18. Kojima M, Hoshimaru M, Aoki T, Takahashi JB, Ohtsuka T, Asahi M, Matsuura N, et al (1996) Expression of heat shock proteins in the developing rat retina. Neurosci Lett 205: 215-217
19. Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498
20. Lopez PF, Maumenee IH, Cruz Z, Green WR (1990) Autosomal-dominant fundus flavimaculatus: clinicopathologic correlation. Ophthalmology 97:798-809
21. Mansour AM (1992) Long-term follow-up of dominant macular dystrophy with flecks (Stargardt). Ophthalmologica 205:138-143
22. Morton NE (1955) Sequential tests for the detection of linkage. Am J Hum Genet 7:277-318
23. Noble KG, Carr RE (1979) Stargardt's disease and fundus flavimaculatus. Arch Ophthalmol 97:1281-1285
24. Payne AM, Downes SM, Bessant DA, Taylor R, Holder GE, Warren MJ, Bird AC, et al (1998) A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet 7:273-277
25. Rebbe NF, Hickman WS, Ley TJ, Stafford DW, Hickman S (1989) Nucleotide sequence and regulation of a human 90-kDa heat shock protein gene. J Biol Chem 264: 15006-15011
26. Seddon JM, Ajani UA, Mitchell BD (1997) Familial aggregation of age-related maculopathy. Am J Ophthalmol 123: 199-206
27. Seddon JM, Willett WC, Speizer FE, Hankinson SE (1996) A prospective study of cigarette smoking and age-related macular degeneration in women. JAMA 276:1141-1146
28. Small KW, Syrquin M, Mullen L, Gehrs K (1996) Mapping of autosomal dominant cone degeneration to chromosome 17p. Am J Ophthalmol 121:13-18
29. Stargardt K (1909) Über familiäre progressive Degeneration in der Makulagegend des Auges. Albrecht Graefes Arch Klin Exp Ophthalmol 71:534-549
30. Stone EM, Nichols BE, Kimura AE, Weingeist TA, Drack A, Sheffield VC (1994) Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol 112:765-772
31. Stone EM, Webster AR, Vandenburgh K, Streb LM, Hockey RR, Lotery AJ, Sheffield VC (1998) Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat Genet 20:328-329
32. Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, et al (1997) Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 19:1329-1336
33. van Driel MA, Maugeri A, Klevering BJ, Hoyng CB, Cremers FPM (1998) ABCR unites what ophthalmologists divide(s). Ophthalmic Genet 19:117-122
34. Young RW (1987) Pathophysiology of age-related macular degeneration. Surv Ophthalmol 31:291-306
35. Zhang K, Bither PP, Park R, Donoso LA, Siedman JG, Siedman CE (1994) A dominant Stargardt's macular dystrophy maps to chromosome 13q34. Arch Ophthalmol 112:759-764